Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36087879G>ACA5054941RECKc.823G>A (p.Val275Ile)
c.439G>A (p.Val147Ile)
c.712G>A (p.Val238Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36087879G>CCA373404078RECKc.823G>C (p.Val275Leu)
c.439G>C (p.Val147Leu)
c.712G>C (p.Val238Leu)
 COSMIC
9g.36087879G=CA1846266812RECKc.823G= (p.Val275=)
c.439G= (p.Val147=)
c.712G= (p.Val238=)
9g.36087879G>TCA373404076RECKc.823G>T (p.Val275Phe)
c.439G>T (p.Val147Phe)
c.712G>T (p.Val238Phe)
9g.36087880T>ACA192836685RECKc.824T>A (p.Val275Asp)
c.440T>A (p.Val147Asp)
c.713T>A (p.Val238Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.36087880T>CCA373404084RECKc.824T>C (p.Val275Ala)
c.440T>C (p.Val147Ala)
c.713T>C (p.Val238Ala)
9g.36087880T>GCA373404082RECKc.824T>G (p.Val275Gly)
c.440T>G (p.Val147Gly)
c.713T>G (p.Val238Gly)
9g.36087880T=CA1846266813RECKc.824T= (p.Val275=)
c.440T= (p.Val147=)
c.713T= (p.Val238=)
9g.36087881C>ACA464477327RECKc.825C>A (p.Val275=)
c.441C>A (p.Val147=)
c.714C>A (p.Val238=)
 dbSNP gnomAD v4
9g.36087881C=CA1846266814RECKc.825C= (p.Val275=)
c.441C= (p.Val147=)
c.714C= (p.Val238=)
9g.36087881C>GCA464477324RECKc.825C>G (p.Val275=)
c.441C>G (p.Val147=)
c.714C>G (p.Val238=)
9g.36087881C>TCA5054942RECKc.825C>T (p.Val275=)
c.441C>T (p.Val147=)
c.714C>T (p.Val238=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36087882A>CCA373404087RECKc.826A>C (p.Thr276Pro)
c.442A>C (p.Thr148Pro)
c.715A>C (p.Thr239Pro)
9g.36087882A>GCA373404089RECKc.826A>G (p.Thr276Ala)
c.442A>G (p.Thr148Ala)
c.715A>G (p.Thr239Ala)
9g.36087882A>TCA373404091RECKc.826A>T (p.Thr276Ser)
c.442A>T (p.Thr148Ser)
c.715A>T (p.Thr239Ser)
9g.36087883C>ACA373404094RECKc.827C>A (p.Thr276Asn)
c.443C>A (p.Thr148Asn)
c.716C>A (p.Thr239Asn)
9g.36087883C=CA1846266815RECKc.827C= (p.Thr276=)
c.443C= (p.Thr148=)
c.716C= (p.Thr239=)
9g.36087883C>GCA373404096RECKc.827C>G (p.Thr276Ser)
c.443C>G (p.Thr148Ser)
c.716C>G (p.Thr239Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.36087883C>TCA373404099RECKc.827C>T (p.Thr276Ile)
c.443C>T (p.Thr148Ile)
c.716C>T (p.Thr239Ile)
9g.36087884T>ACA464477344RECKc.828T>A (p.Thr276=)
c.444T>A (p.Thr148=)
c.717T>A (p.Thr239=)
9g.36087884T>CCA464477347RECKc.828T>C (p.Thr276=)
c.444T>C (p.Thr148=)
c.717T>C (p.Thr239=)
9g.36087884T>GCA464477350RECKc.828T>G (p.Thr276=)
c.444T>G (p.Thr148=)
c.717T>G (p.Thr239=)
9g.36087885G>ACA373404102RECKc.829G>A (p.Val277Ile)
c.445G>A (p.Val149Ile)
c.718G>A (p.Val240Ile)
9g.36087885G>CCA373404104RECKc.829G>C (p.Val277Leu)
c.445G>C (p.Val149Leu)
c.718G>C (p.Val240Leu)
9g.36087885G>TCA373404106RECKc.829G>T (p.Val277Leu)
c.445G>T (p.Val149Leu)
c.718G>T (p.Val240Leu)
9g.36087886T>ACA373404109RECKc.830T>A (p.Val277Glu)
c.446T>A (p.Val149Glu)
c.719T>A (p.Val240Glu)
9g.36087886T>CCA373404111RECKc.830T>C (p.Val277Ala)
c.446T>C (p.Val149Ala)
c.719T>C (p.Val240Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.36087886T>GCA373404112RECKc.830T>G (p.Val277Gly)
c.446T>G (p.Val149Gly)
c.719T>G (p.Val240Gly)
9g.36087886T=CA1846266816RECKc.830T= (p.Val277=)
c.446T= (p.Val149=)
c.719T= (p.Val240=)
9g.36087887A>CCA464477366RECKc.831A>C (p.Val277=)
c.447A>C (p.Val149=)
c.720A>C (p.Val240=)
9g.36087887A>GCA464477371RECKc.831A>G (p.Val277=)
c.447A>G (p.Val149=)
c.720A>G (p.Val240=)
9g.36087887A>TCA464477369RECKc.831A>T (p.Val277=)
c.447A>T (p.Val149=)
c.720A>T (p.Val240=)
9g.36087888C>ACA373404117RECKc.832C>A (p.His278Asn)
c.448C>A (p.His150Asn)
c.721C>A (p.His241Asn)
9g.36087888C>GCA373404114RECKc.832C>G (p.His278Asp)
c.448C>G (p.His150Asp)
c.721C>G (p.His241Asp)
9g.36087888C>TCA373404115RECKc.832C>T (p.His278Tyr)
c.448C>T (p.His150Tyr)
c.721C>T (p.His241Tyr)
9g.36087889A>CCA373404118RECKc.833A>C (p.His278Pro)
c.449A>C (p.His150Pro)
c.722A>C (p.His241Pro)
9g.36087889A>GCA373404120RECKc.833A>G (p.His278Arg)
c.449A>G (p.His150Arg)
c.722A>G (p.His241Arg)
9g.36087889A>TCA373404121RECKc.833A>T (p.His278Leu)
c.449A>T (p.His150Leu)
c.722A>T (p.His241Leu)
9g.36087890C>ACA373404122RECKc.834C>A (p.His278Gln)
c.450C>A (p.His150Gln)
c.723C>A (p.His241Gln)
 dbSNP
9g.36087890C=CA1846266817RECKc.834C= (p.His278=)
c.450C= (p.His150=)
c.723C= (p.His241=)
9g.36087890C>GCA373404124RECKc.834C>G (p.His278Gln)
c.450C>G (p.His150Gln)
c.723C>G (p.His241Gln)
9g.36087890C>TCA464477377RECKc.834C>T (p.His278=)
c.450C>T (p.His150=)
c.723C>T (p.His241=)
9g.36087891C>ACA373404125RECKc.835C>A (p.Pro279Thr)
c.451C>A (p.Pro151Thr)
c.724C>A (p.Pro242Thr)
 dbSNP gnomAD v2
9g.36087891C=CA1846266818RECKc.835C= (p.Pro279=)
c.451C= (p.Pro151=)
c.724C= (p.Pro242=)
9g.36087891C>GCA373404127RECKc.835C>G (p.Pro279Ala)
c.451C>G (p.Pro151Ala)
c.724C>G (p.Pro242Ala)
9g.36087891C>TCA373404130RECKc.835C>T (p.Pro279Ser)
c.451C>T (p.Pro151Ser)
c.724C>T (p.Pro242Ser)
9g.36087892C>ACA373404132RECKc.836C>A (p.Pro279His)
c.452C>A (p.Pro151His)
c.725C>A (p.Pro242His)
9g.36087892C>GCA373404134RECKc.836C>G (p.Pro279Arg)
c.452C>G (p.Pro151Arg)
c.725C>G (p.Pro242Arg)
9g.36087892C>TCA373404135RECKc.836C>T (p.Pro279Leu)
c.452C>T (p.Pro151Leu)
c.725C>T (p.Pro242Leu)
9g.36087893T>ACA464477391RECKc.837T>A (p.Pro279=)
c.453T>A (p.Pro151=)
c.726T>A (p.Pro242=)
9g.36087893T>CCA192836705RECKc.837T>C (p.Pro279=)
c.453T>C (p.Pro151=)
c.726T>C (p.Pro242=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36087893T>GCA464477393RECKc.837T>G (p.Pro279=)
c.453T>G (p.Pro151=)
c.726T>G (p.Pro242=)
9g.36087893T=CA1846266819RECKc.837T= (p.Pro279=)
c.453T= (p.Pro151=)
c.726T= (p.Pro242=)
9g.36087894C>ACA373404138RECKc.838C>A (p.Pro280Thr)
c.454C>A (p.Pro152Thr)
c.727C>A (p.Pro243Thr)
9g.36087894C>GCA373404144RECKc.838C>G (p.Pro280Ala)
c.454C>G (p.Pro152Ala)
c.727C>G (p.Pro243Ala)
9g.36087894C>TCA373404140RECKc.838C>T (p.Pro280Ser)
c.454C>T (p.Pro152Ser)
c.727C>T (p.Pro243Ser)
 gnomAD v4
9g.36087895C>ACA373404147RECKc.839C>A (p.Pro280His)
c.455C>A (p.Pro152His)
c.728C>A (p.Pro243His)
9g.36087895C=CA1846266820RECKc.839C= (p.Pro280=)
c.455C= (p.Pro152=)
c.728C= (p.Pro243=)
9g.36087895C>GCA373404148RECKc.839C>G (p.Pro280Arg)
c.455C>G (p.Pro152Arg)
c.728C>G (p.Pro243Arg)
9g.36087895C>TCA5054943RECKc.839C>T (p.Pro280Leu)
c.455C>T (p.Pro152Leu)
c.728C>T (p.Pro243Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36087896T>ACA464477411RECKc.840T>A (p.Pro280=)
c.456T>A (p.Pro152=)
c.729T>A (p.Pro243=)
9g.36087896T>CCA192836719RECKc.840T>C (p.Pro280=)
c.456T>C (p.Pro152=)
c.729T>C (p.Pro243=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.36087896T>GCA464477414RECKc.840T>G (p.Pro280=)
c.456T>G (p.Pro152=)
c.729T>G (p.Pro243=)
9g.36087896T=CA1846266821RECKc.840T= (p.Pro280=)
c.456T= (p.Pro152=)
c.729T= (p.Pro243=)
9g.36087897C>ACA373404153RECKc.841C>A (p.Pro281Thr)
c.457C>A (p.Pro153Thr)
c.730C>A (p.Pro244Thr)
9g.36087897C=CA1846266822RECKc.841C= (p.Pro281=)
c.457C= (p.Pro153=)
c.730C= (p.Pro244=)
9g.36087897C>GCA373404155RECKc.841C>G (p.Pro281Ala)
c.457C>G (p.Pro153Ala)
c.730C>G (p.Pro244Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.36087897C>TCA373404158RECKc.841C>T (p.Pro281Ser)
c.457C>T (p.Pro153Ser)
c.730C>T (p.Pro244Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.36087898C>ACA373404161RECKc.842C>A (p.Pro281His)
c.458C>A (p.Pro153His)
c.731C>A (p.Pro244His)
9g.36087898C>GCA373404163RECKc.842C>G (p.Pro281Arg)
c.458C>G (p.Pro153Arg)
c.731C>G (p.Pro244Arg)
9g.36087898C>TCA373404165RECKc.842C>T (p.Pro281Leu)
c.458C>T (p.Pro153Leu)
c.731C>T (p.Pro244Leu)
 gnomAD v4
9g.36087899C>ACA464477438RECKc.843C>A (p.Pro281=)
c.459C>A (p.Pro153=)
c.732C>A (p.Pro244=)
9g.36087899C=CA1846266823RECKc.843C= (p.Pro281=)
c.459C= (p.Pro153=)
c.732C= (p.Pro244=)
9g.36087899C>GCA464477440RECKc.843C>G (p.Pro281=)
c.459C>G (p.Pro153=)
c.732C>G (p.Pro244=)
 dbSNP gnomAD v4
9g.36087899C>TCA464477443RECKc.843C>T (p.Pro281=)
c.459C>T (p.Pro153=)
c.732C>T (p.Pro244=)
 dbSNP gnomAD v3 gnomAD v4
9g.36087900T>ACA373404167RECKc.844T>A (p.Ser282Thr)
c.460T>A (p.Ser154Thr)
c.733T>A (p.Ser245Thr)
 dbSNP
9g.36087900T>CCA373404169RECKc.844T>C (p.Ser282Pro)
c.460T>C (p.Ser154Pro)
c.733T>C (p.Ser245Pro)
9g.36087900T>GCA373404172RECKc.844T>G (p.Ser282Ala)
c.460T>G (p.Ser154Ala)
c.733T>G (p.Ser245Ala)
 gnomAD v4
9g.36087900T=CA1846266824RECKc.844T= (p.Ser282=)
c.460T= (p.Ser154=)
c.733T= (p.Ser245=)
9g.36087901C>ACA373404189RECKc.845C>A (p.Ser282Tyr)
c.461C>A (p.Ser154Tyr)
c.734C>A (p.Ser245Tyr)
9g.36087901C>GCA373404174RECKc.845C>G (p.Ser282Cys)
c.461C>G (p.Ser154Cys)
c.734C>G (p.Ser245Cys)
9g.36087901C>TCA373404177RECKc.845C>T (p.Ser282Phe)
c.461C>T (p.Ser154Phe)
c.734C>T (p.Ser245Phe)
9g.36087902T>ACA464477462RECKc.846T>A (p.Ser282=)
c.462T>A (p.Ser154=)
c.735T>A (p.Ser245=)
9g.36087902T>CCA464477454RECKc.846T>C (p.Ser282=)
c.462T>C (p.Ser154=)
c.735T>C (p.Ser245=)
9g.36087902T>GCA464477456RECKc.846T>G (p.Ser282=)
c.462T>G (p.Ser154=)
c.735T>G (p.Ser245=)
9g.36087903A>CCA373404194RECKc.847A>C (p.Thr283Pro)
c.463A>C (p.Thr155Pro)
c.736A>C (p.Thr246Pro)
9g.36087903A>GCA373404196RECKc.847A>G (p.Thr283Ala)
c.463A>G (p.Thr155Ala)
c.736A>G (p.Thr246Ala)
9g.36087903A>TCA373404198RECKc.847A>T (p.Thr283Ser)
c.463A>T (p.Thr155Ser)
c.736A>T (p.Thr246Ser)
9g.36087904C>ACA373404199RECKc.848C>A (p.Thr283Lys)
c.464C>A (p.Thr155Lys)
c.737C>A (p.Thr246Lys)
9g.36087904C>GCA373404201RECKc.848C>G (p.Thr283Arg)
c.464C>G (p.Thr155Arg)
c.737C>G (p.Thr246Arg)
9g.36087904C>TCA373404203RECKc.848C>T (p.Thr283Ile)
c.464C>T (p.Thr155Ile)
c.737C>T (p.Thr246Ile)
 gnomAD v4
9g.36087905A=CA1846266825RECKc.849A= (p.Thr283=)
c.465A= (p.Thr155=)
c.738A= (p.Thr246=)
9g.36087905A>CCA464477490RECKc.849A>C (p.Thr283=)
c.465A>C (p.Thr155=)
c.738A>C (p.Thr246=)
9g.36087905A>GCA5054944RECKc.849A>G (p.Thr283=)
c.465A>G (p.Thr155=)
c.738A>G (p.Thr246=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36087905A>TCA464477494RECKc.849A>T (p.Thr283=)
c.465A>T (p.Thr155=)
c.738A>T (p.Thr246=)
9g.36087906G>ACA373404208RECKc.850G>A (p.Gly284Ser)
c.466G>A (p.Gly156Ser)
c.739G>A (p.Gly247Ser)
 dbSNP
9g.36087906G>CCA373404210RECKc.850G>C (p.Gly284Arg)
c.466G>C (p.Gly156Arg)
c.739G>C (p.Gly247Arg)
9g.36087906G=CA1846266826RECKc.850G= (p.Gly284=)
c.466G= (p.Gly156=)
c.739G= (p.Gly247=)
9g.36087906G>TCA373404211RECKc.850G>T (p.Gly284Cys)
c.466G>T (p.Gly156Cys)
c.739G>T (p.Gly247Cys)
 COSMIC
9g.36087907G>ACA373404219RECKc.851G>A (p.Gly284Asp)
c.467G>A (p.Gly156Asp)
c.740G>A (p.Gly247Asp)
9g.36087907G>CCA373404216RECKc.851G>C (p.Gly284Ala)
c.467G>C (p.Gly156Ala)
c.740G>C (p.Gly247Ala)
9g.36087907G>TCA373404214RECKc.851G>T (p.Gly284Val)
c.467G>T (p.Gly156Val)
c.740G>T (p.Gly247Val)
9g.36087908C>ACA464477519RECKc.852C>A (p.Gly284=)
c.468C>A (p.Gly156=)
c.741C>A (p.Gly247=)
9g.36087908C>GCA464477520RECKc.852C>G (p.Gly284=)
c.468C>G (p.Gly156=)
c.741C>G (p.Gly247=)
9g.36087908C>TCA464477524RECKc.852C>T (p.Gly284=)
c.468C>T (p.Gly156=)
c.741C>T (p.Gly247=)
9g.36087909C>ACA373404222RECKc.853C>A (p.Leu285Ile)
c.469C>A (p.Leu157Ile)
c.742C>A (p.Leu248Ile)
9g.36087909C=CA1846266827RECKc.853C= (p.Leu285=)
c.469C= (p.Leu157=)
c.742C= (p.Leu248=)
9g.36087909C>GCA373404225RECKc.853C>G (p.Leu285Val)
c.469C>G (p.Leu157Val)
c.742C>G (p.Leu248Val)
9g.36087909C>TCA5054945RECKc.853C>T (p.Leu285Phe)
c.469C>T (p.Leu157Phe)
c.742C>T (p.Leu248Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.36087910T>ACA373404227RECKc.854T>A (p.Leu285His)
c.470T>A (p.Leu157His)
c.743T>A (p.Leu248His)
9g.36087910T>CCA373404229RECKc.854T>C (p.Leu285Pro)
c.470T>C (p.Leu157Pro)
c.743T>C (p.Leu248Pro)
9g.36087910T>GCA373404231RECKc.854T>G (p.Leu285Arg)
c.470T>G (p.Leu157Arg)
c.743T>G (p.Leu248Arg)
 dbSNP gnomAD v4
9g.36087911C>ACA464477540RECKc.855C>A (p.Leu285=)
c.471C>A (p.Leu157=)
c.744C>A (p.Leu248=)
9g.36087911C=CA1846266828RECKc.855C= (p.Leu285=)
c.471C= (p.Leu157=)
c.744C= (p.Leu248=)
9g.36087911C>GCA464477542RECKc.855C>G (p.Leu285=)
c.471C>G (p.Leu157=)
c.744C>G (p.Leu248=)
9g.36087911C>TCA5054946RECKc.855C>T (p.Leu285=)
c.471C>T (p.Leu157=)
c.744C>T (p.Leu248=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36087912G>ACA5054947RECKc.856G>A (p.Asp286Asn)
c.472G>A (p.Asp158Asn)
c.745G>A (p.Asp249Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36087912G>CCA373404234RECKc.856G>C (p.Asp286His)
c.472G>C (p.Asp158His)
c.745G>C (p.Asp249His)
9g.36087912G=CA1846266829RECKc.856G= (p.Asp286=)
c.472G= (p.Asp158=)
c.745G= (p.Asp249=)
9g.36087912G>TCA373404236RECKc.856G>T (p.Asp286Tyr)
c.472G>T (p.Asp158Tyr)
c.745G>T (p.Asp249Tyr)
9g.36087913A>CCA373404239RECKc.857A>C (p.Asp286Ala)
c.473A>C (p.Asp158Ala)
c.746A>C (p.Asp249Ala)
9g.36087913A>GCA373404241RECKc.857A>G (p.Asp286Gly)
c.473A>G (p.Asp158Gly)
c.746A>G (p.Asp249Gly)
 gnomAD v4
9g.36087913A>TCA373404243RECKc.857A>T (p.Asp286Val)
c.473A>T (p.Asp158Val)
c.746A>T (p.Asp249Val)
9g.36087914T>ACA373404246RECKc.858T>A (p.Asp286Glu)
c.474T>A (p.Asp158Glu)
c.747T>A (p.Asp249Glu)
9g.36087914T>CCA464477556RECKc.858T>C (p.Asp286=)
c.474T>C (p.Asp158=)
c.747T>C (p.Asp249=)
9g.36087914T>GCA373404250RECKc.858T>G (p.Asp286Glu)
c.474T>G (p.Asp158Glu)
c.747T>G (p.Asp249Glu)
9g.36087915G>ACA5054948RECKc.859G>A (p.Gly287Arg)
c.475G>A (p.Gly159Arg)
c.748G>A (p.Gly250Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36087915G>CCA373404255RECKc.859G>C (p.Gly287Arg)
c.475G>C (p.Gly159Arg)
c.748G>C (p.Gly250Arg)
9g.36087915G=CA1846266830RECKc.859G= (p.Gly287=)
c.475G= (p.Gly159=)
c.748G= (p.Gly250=)
9g.36087915G>TCA373404254RECKc.859G>T (p.Gly287Trp)
c.475G>T (p.Gly159Trp)
c.748G>T (p.Gly250Trp)
9g.36087918dupCA2579337489RECKc.862dup (p.Ala288GlyfsTer2)
c.478dup (p.Ala160GlyfsTer2)
c.751dup (p.Ala251GlyfsTer2)
9g.36087916G>ACA373404257RECKc.860G>A (p.Gly287Glu)
c.476G>A (p.Gly159Glu)
c.749G>A (p.Gly250Glu)
9g.36087916G>CCA373404261RECKc.860G>C (p.Gly287Ala)
c.476G>C (p.Gly159Ala)
c.749G>C (p.Gly250Ala)
9g.36087916G>TCA373404263RECKc.860G>T (p.Gly287Val)
c.476G>T (p.Gly159Val)
c.749G>T (p.Gly250Val)
9g.36087917G>ACA464477573RECKc.861G>A (p.Gly287=)
c.477G>A (p.Gly159=)
c.750G>A (p.Gly250=)
9g.36087917G>CCA464477574RECKc.861G>C (p.Gly287=)
c.477G>C (p.Gly159=)
c.750G>C (p.Gly250=)
9g.36087917G>TCA464477575RECKc.861G>T (p.Gly287=)
c.477G>T (p.Gly159=)
c.750G>T (p.Gly250=)
9g.36087918G>ACA373404265RECKc.862G>A (p.Ala288Thr)
c.478G>A (p.Ala160Thr)
c.751G>A (p.Ala251Thr)
9g.36087918G>CCA373404267RECKc.862G>C (p.Ala288Pro)
c.478G>C (p.Ala160Pro)
c.751G>C (p.Ala251Pro)
9g.36087918G=CA1846266831RECKc.862G= (p.Ala288=)
c.478G= (p.Ala160=)
c.751G= (p.Ala251=)
9g.36087918G>TCA5054949RECKc.862G>T (p.Ala288Ser)
c.478G>T (p.Ala160Ser)
c.751G>T (p.Ala251Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36087919C>ACA373404273RECKc.863C>A (p.Ala288Asp)
c.479C>A (p.Ala160Asp)
c.752C>A (p.Ala251Asp)
9g.36087919C=CA1846266832RECKc.863C= (p.Ala288=)
c.479C= (p.Ala160=)
c.752C= (p.Ala251=)
9g.36087919C>GCA373404276RECKc.863C>G (p.Ala288Gly)
c.479C>G (p.Ala160Gly)
c.752C>G (p.Ala251Gly)
9g.36087919C>TCA373404278RECKc.863C>T (p.Ala288Val)
c.479C>T (p.Ala160Val)
c.752C>T (p.Ala251Val)
 dbSNP
9g.36087920T>ACA464477586RECKc.864T>A (p.Ala288=)
c.480T>A (p.Ala160=)
c.753T>A (p.Ala251=)
9g.36087920T>CCA464477589RECKc.864T>C (p.Ala288=)
c.480T>C (p.Ala160=)
c.753T>C (p.Ala251=)
9g.36087920T>GCA464477592RECKc.864T>G (p.Ala288=)
c.480T>G (p.Ala160=)
c.753T>G (p.Ala251=)
9g.36087921A>CCA373404283RECKc.865A>C (p.Lys289Gln)
c.481A>C (p.Lys161Gln)
c.754A>C (p.Lys252Gln)
9g.36087921A>GCA373404286RECKc.865A>G (p.Lys289Glu)
c.481A>G (p.Lys161Glu)
c.754A>G (p.Lys252Glu)
9g.36087921A>TCA373404281RECKc.865A>T (p.Lys289Ter)
c.481A>T (p.Lys161Ter)
c.754A>T (p.Lys252Ter)
9g.36087922A>CCA373404290RECKc.866A>C (p.Lys289Thr)
c.482A>C (p.Lys161Thr)
c.755A>C (p.Lys252Thr)
9g.36087922A>GCA373404293RECKc.866A>G (p.Lys289Arg)
c.482A>G (p.Lys161Arg)
c.755A>G (p.Lys252Arg)
9g.36087922A>TCA373404297RECKc.866A>T (p.Lys289Ile)
c.482A>T (p.Lys161Ile)
c.755A>T (p.Lys252Ile)
9g.36087923A=CA1846266833RECKc.867A= (p.Lys289=)
c.483A= (p.Lys161=)
c.756A= (p.Lys252=)
9g.36087923A>CCA373404301RECKc.867A>C (p.Lys289Asn)
c.483A>C (p.Lys161Asn)
c.756A>C (p.Lys252Asn)
9g.36087923A>GCA464477609RECKc.867A>G (p.Lys289=)
c.483A>G (p.Lys161=)
c.756A>G (p.Lys252=)
 dbSNP gnomAD v2 gnomAD v4
9g.36087923A>TCA373404303RECKc.867A>T (p.Lys289Asn)
c.483A>T (p.Lys161Asn)
c.756A>T (p.Lys252Asn)
9g.36087924T>ACA373404307RECKc.868T>A (p.Leu290Met)
c.484T>A (p.Leu162Met)
c.757T>A (p.Leu253Met)
9g.36087924T>CCA464477617RECKc.868T>C (p.Leu290=)
c.484T>C (p.Leu162=)
c.757T>C (p.Leu253=)
 gnomAD v4
9g.36087924T>GCA373404310RECKc.868T>G (p.Leu290Val)
c.484T>G (p.Leu162Val)
c.757T>G (p.Leu253Val)
9g.36087925T>ACA373404312RECKc.869T>A (p.Leu290Ter)
c.485T>A (p.Leu162Ter)
c.758T>A (p.Leu253Ter)
 gnomAD v4
9g.36087925T>CCA373404315RECKc.869T>C (p.Leu290Ser)
c.485T>C (p.Leu162Ser)
c.758T>C (p.Leu253Ser)
9g.36087925T>GCA5054950RECKc.869T>G (p.Leu290Trp)
c.485T>G (p.Leu162Trp)
c.758T>G (p.Leu253Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36087925T=CA1846266834RECKc.869T= (p.Leu290=)
c.485T= (p.Leu162=)
c.758T= (p.Leu253=)
9g.36087926G>ACA464477630RECKc.870G>A (p.Leu290=)
c.486G>A (p.Leu162=)
c.759G>A (p.Leu253=)
9g.36087926G>CCA373404317RECKc.870G>C (p.Leu290Phe)
c.486G>C (p.Leu162Phe)
c.759G>C (p.Leu253Phe)
9g.36087926G>TCA373404318RECKc.870G>T (p.Leu290Phe)
c.486G>T (p.Leu162Phe)
c.759G>T (p.Leu253Phe)
9g.36087927C>ACA373404320RECKc.871C>A (p.His291Asn)
c.487C>A (p.His163Asn)
c.760C>A (p.His254Asn)
9g.36087927C>GCA373404321RECKc.871C>G (p.His291Asp)
c.487C>G (p.His163Asp)
c.760C>G (p.His254Asp)
9g.36087927C>TCA373404319RECKc.871C>T (p.His291Tyr)
c.487C>T (p.His163Tyr)
c.760C>T (p.His254Tyr)
9g.36087928A=CA1846266835RECKc.872A= (p.His291=)
c.488A= (p.His163=)
c.761A= (p.His254=)
9g.36087928A>CCA373404323RECKc.872A>C (p.His291Pro)
c.488A>C (p.His163Pro)
c.761A>C (p.His254Pro)
 dbSNP gnomAD v4
9g.36087928A>GCA373404325RECKc.872A>G (p.His291Arg)
c.488A>G (p.His163Arg)
c.761A>G (p.His254Arg)
9g.36087928A>TCA373404327RECKc.872A>T (p.His291Leu)
c.488A>T (p.His163Leu)
c.761A>T (p.His254Leu)
9g.36087929T>ACA373404329RECKc.873T>A (p.His291Gln)
c.489T>A (p.His163Gln)
c.762T>A (p.His254Gln)
9g.36087929T>CCA5054951RECKc.873T>C (p.His291=)
c.489T>C (p.His163=)
c.762T>C (p.His254=)
 dbSNP ExAC gnomAD v2
9g.36087929T>GCA373404332RECKc.873T>G (p.His291Gln)
c.489T>G (p.His163Gln)
c.762T>G (p.His254Gln)
9g.36087929T=CA1846266836RECKc.873T= (p.His291=)
c.489T= (p.His163=)
c.762T= (p.His254=)
9g.36087934_36087936delCA2689934716RECKc.878_880del (p.Cys293del)
c.494_496del (p.Cys165del)
c.767_769del (p.Cys256del)
 gnomAD v4
9g.36087930T>ACA373404334RECKc.874T>A (p.Cys292Ser)
c.490T>A (p.Cys164Ser)
c.763T>A (p.Cys255Ser)
9g.36087930T>CCA373404340RECKc.874T>C (p.Cys292Arg)
c.490T>C (p.Cys164Arg)
c.763T>C (p.Cys255Arg)
9g.36087930T>GCA373404339RECKc.874T>G (p.Cys292Gly)
c.490T>G (p.Cys164Gly)
c.763T>G (p.Cys255Gly)
9g.36087931G>ACA373404341RECKc.875G>A (p.Cys292Tyr)
c.491G>A (p.Cys164Tyr)
c.764G>A (p.Cys255Tyr)
9g.36087931G>CCA373404343RECKc.875G>C (p.Cys292Ser)
c.491G>C (p.Cys164Ser)
c.764G>C (p.Cys255Ser)
 gnomAD v4
9g.36087931G>TCA373404346RECKc.875G>T (p.Cys292Phe)
c.491G>T (p.Cys164Phe)
c.764G>T (p.Cys255Phe)
9g.36087932T>ACA373404353RECKc.876T>A (p.Cys292Ter)
c.492T>A (p.Cys164Ter)
c.765T>A (p.Cys255Ter)
9g.36087932T>CCA464477653RECKc.876T>C (p.Cys292=)
c.492T>C (p.Cys164=)
c.765T>C (p.Cys255=)
 dbSNP gnomAD v4
9g.36087932T>GCA373404355RECKc.876T>G (p.Cys292Trp)
c.492T>G (p.Cys164Trp)
c.765T>G (p.Cys255Trp)
9g.36087932T=CA1846266837RECKc.876T= (p.Cys292=)
c.492T= (p.Cys164=)
c.765T= (p.Cys255=)
9g.36087933T>ACA373404363RECKc.877T>A (p.Cys293Ser)
c.493T>A (p.Cys165Ser)
c.766T>A (p.Cys256Ser)
9g.36087933T>CCA5054952RECKc.877T>C (p.Cys293Arg)
c.493T>C (p.Cys165Arg)
c.766T>C (p.Cys256Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36087933T>GCA373404358RECKc.877T>G (p.Cys293Gly)
c.493T>G (p.Cys165Gly)
c.766T>G (p.Cys256Gly)
9g.36087933T=CA1846266838RECKc.877T= (p.Cys293=)
c.493T= (p.Cys165=)
c.766T= (p.Cys256=)
9g.36087934G>ACA373404370RECKc.878G>A (p.Cys293Tyr)
c.494G>A (p.Cys165Tyr)
c.767G>A (p.Cys256Tyr)
 gnomAD v4
9g.36087934G>CCA373404366RECKc.878G>C (p.Cys293Ser)
c.494G>C (p.Cys165Ser)
c.767G>C (p.Cys256Ser)
9g.36087934G>TCA373404367RECKc.878G>T (p.Cys293Phe)
c.494G>T (p.Cys165Phe)
c.767G>T (p.Cys256Phe)
9g.36087935T>ACA373404371RECKc.879T>A (p.Cys293Ter)
c.495T>A (p.Cys165Ter)
c.768T>A (p.Cys256Ter)
9g.36087935T>CCA464477660RECKc.879T>C (p.Cys293=)
c.495T>C (p.Cys165=)
c.768T>C (p.Cys256=)
9g.36087935T>GCA373404374RECKc.879T>G (p.Cys293Trp)
c.495T>G (p.Cys165Trp)
c.768T>G (p.Cys256Trp)
9g.36087936T>ACA373404376RECKc.880T>A (p.Ser294Thr)
c.496T>A (p.Ser166Thr)
c.769T>A (p.Ser257Thr)
9g.36087936T>CCA373404379RECKc.880T>C (p.Ser294Pro)
c.496T>C (p.Ser166Pro)
c.769T>C (p.Ser257Pro)
9g.36087936T>GCA373404382RECKc.880T>G (p.Ser294Ala)
c.496T>G (p.Ser166Ala)
c.769T>G (p.Ser257Ala)
9g.36087937C>ACA373404385RECKc.881C>A (p.Ser294Tyr)
c.497C>A (p.Ser166Tyr)
c.770C>A (p.Ser257Tyr)
 gnomAD v4
9g.36087937C>GCA373404387RECKc.881C>G (p.Ser294Cys)
c.497C>G (p.Ser166Cys)
c.770C>G (p.Ser257Cys)
9g.36087937C>TCA373404389RECKc.881C>T (p.Ser294Phe)
c.497C>T (p.Ser166Phe)
c.770C>T (p.Ser257Phe)
9g.36087938T>ACA464477665RECKc.882T>A (p.Ser294=)
c.498T>A (p.Ser166=)
c.771T>A (p.Ser257=)
9g.36087938T>CCA464477666RECKc.882T>C (p.Ser294=)
c.498T>C (p.Ser166=)
c.771T>C (p.Ser257=)
9g.36087938T>GCA464477667RECKc.882T>G (p.Ser294=)
c.498T>G (p.Ser166=)
c.771T>G (p.Ser257=)
9g.36087939A=CA1846266839RECKc.883A= (p.Lys295=)
c.499A= (p.Lys167=)
c.772A= (p.Lys258=)
9g.36087939A>CCA373404394RECKc.883A>C (p.Lys295Gln)
c.499A>C (p.Lys167Gln)
c.772A>C (p.Lys258Gln)
9g.36087939A>GCA373404397RECKc.883A>G (p.Lys295Glu)
c.499A>G (p.Lys167Glu)
c.772A>G (p.Lys258Glu)
 dbSNP
9g.36087939A>TCA373404399RECKc.883A>T (p.Lys295Ter)
c.499A>T (p.Lys167Ter)
c.772A>T (p.Lys258Ter)
9g.36087940A>CCA373404407RECKc.884A>C (p.Lys295Thr)
c.500A>C (p.Lys167Thr)
c.773A>C (p.Lys258Thr)
9g.36087940A>GCA373404409RECKc.884A>G (p.Lys295Arg)
c.500A>G (p.Lys167Arg)
c.773A>G (p.Lys258Arg)
9g.36087940A>TCA373404404RECKc.884A>T (p.Lys295Ile)
c.500A>T (p.Lys167Ile)
c.773A>T (p.Lys258Ile)
9g.36087941A>CCA373404412RECKc.885A>C (p.Lys295Asn)
c.501A>C (p.Lys167Asn)
c.774A>C (p.Lys258Asn)
9g.36087941A>GCA464477671RECKc.885A>G (p.Lys295=)
c.501A>G (p.Lys167=)
c.774A>G (p.Lys258=)
9g.36087941A>TCA373404416RECKc.885A>T (p.Lys295Asn)
c.501A>T (p.Lys167Asn)
c.774A>T (p.Lys258Asn)
9g.36087942G>ACA373404419RECKc.886G>A (p.Ala296Thr)
c.502G>A (p.Ala168Thr)
c.775G>A (p.Ala259Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.36087942G>CCA373404422RECKc.886G>C (p.Ala296Pro)
c.502G>C (p.Ala168Pro)
c.775G>C (p.Ala259Pro)
9g.36087942G=CA1846266840RECKc.886G= (p.Ala296=)
c.502G= (p.Ala168=)
c.775G= (p.Ala259=)
9g.36087942G>TCA373404425RECKc.886G>T (p.Ala296Ser)
c.502G>T (p.Ala168Ser)
c.775G>T (p.Ala259Ser)
9g.36087943C>ACA373404435RECKc.887C>A (p.Ala296Glu)
c.503C>A (p.Ala168Glu)
c.776C>A (p.Ala259Glu)
9g.36087943C>GCA373404430RECKc.887C>G (p.Ala296Gly)
c.503C>G (p.Ala168Gly)
c.776C>G (p.Ala259Gly)
 gnomAD v4
9g.36087943C>TCA373404433RECKc.887C>T (p.Ala296Val)
c.503C>T (p.Ala168Val)
c.776C>T (p.Ala259Val)
9g.36087943_36087945delCA2579337490RECKc.887_889del (p.Ala296_Asn297delinsAsp)
c.503_505del (p.Ala168_Asn169delinsAsp)
c.776_778del (p.Ala259_Asn260delinsAsp)
9g.36087944A>CCA464477679RECKc.888A>C (p.Ala296=)
c.504A>C (p.Ala168=)
c.777A>C (p.Ala259=)
9g.36087944A>GCA464477680RECKc.888A>G (p.Ala296=)
c.504A>G (p.Ala168=)
c.777A>G (p.Ala259=)
9g.36087944A>TCA464477682RECKc.888A>T (p.Ala296=)
c.504A>T (p.Ala168=)
c.777A>T (p.Ala259=)
9g.36087945A>CCA373404438RECKc.889A>C (p.Asn297His)
c.505A>C (p.Asn169His)
c.778A>C (p.Asn260His)
9g.36087945A>GCA373404441RECKc.889A>G (p.Asn297Asp)
c.505A>G (p.Asn169Asp)
c.778A>G (p.Asn260Asp)
9g.36087945A>TCA373404444RECKc.889A>T (p.Asn297Tyr)
c.505A>T (p.Asn169Tyr)
c.778A>T (p.Asn260Tyr)
9g.36087946A>CCA373404448RECKc.890A>C (p.Asn297Thr)
c.506A>C (p.Asn169Thr)
c.779A>C (p.Asn260Thr)
9g.36087946A>GCA373404450RECKc.890A>G (p.Asn297Ser)
c.506A>G (p.Asn169Ser)
c.779A>G (p.Asn260Ser)
9g.36087946A>TCA373404452RECKc.890A>T (p.Asn297Ile)
c.506A>T (p.Asn169Ile)
c.779A>T (p.Asn260Ile)
9g.36087947C>ACA373404455RECKc.891C>A (p.Asn297Lys)
c.507C>A (p.Asn169Lys)
c.780C>A (p.Asn260Lys)
9g.36087947C=CA1846266841RECKc.891C= (p.Asn297=)
c.507C= (p.Asn169=)
c.780C= (p.Asn260=)
9g.36087947C>GCA373404458RECKc.891C>G (p.Asn297Lys)
c.507C>G (p.Asn169Lys)
c.780C>G (p.Asn260Lys)
9g.36087947C>TCA464477688RECKc.891C>T (p.Asn297=)
c.507C>T (p.Asn169=)
c.780C>T (p.Asn260=)
 dbSNP gnomAD v3 gnomAD v4
9g.36087948A=CA1846266842RECKc.892A= (p.Thr298=)
c.508A= (p.Thr170=)
c.781A= (p.Thr261=)
9g.36087948A>CCA373404461RECKc.892A>C (p.Thr298Pro)
c.508A>C (p.Thr170Pro)
c.781A>C (p.Thr261Pro)
9g.36087948A>GCA192836812RECKc.892A>G (p.Thr298Ala)
c.508A>G (p.Thr170Ala)
c.781A>G (p.Thr261Ala)
 dbSNP
9g.36087948A>TCA373404466RECKc.892A>T (p.Thr298Ser)
c.508A>T (p.Thr170Ser)
c.781A>T (p.Thr261Ser)
9g.36087949C>ACA373404470RECKc.893C>A (p.Thr298Asn)
c.509C>A (p.Thr170Asn)
c.782C>A (p.Thr261Asn)
 gnomAD v4
9g.36087949C=CA1846266843RECKc.893C= (p.Thr298=)
c.509C= (p.Thr170=)
c.782C= (p.Thr261=)
9g.36087949C>GCA373404471RECKc.893C>G (p.Thr298Ser)
c.509C>G (p.Thr170Ser)
c.782C>G (p.Thr261Ser)
9g.36087949C>TCA373404475RECKc.893C>T (p.Thr298Ile)
c.509C>T (p.Thr170Ile)
c.782C>T (p.Thr261Ile)
 dbSNP gnomAD v3 gnomAD v4
9g.36087950T>ACA464477692RECKc.894T>A (p.Thr298=)
c.510T>A (p.Thr170=)
c.783T>A (p.Thr261=)
9g.36087950T>CCA464477691RECKc.894T>C (p.Thr298=)
c.510T>C (p.Thr170=)
c.783T>C (p.Thr261=)
9g.36087950T>GCA464477690RECKc.894T>G (p.Thr298=)
c.510T>G (p.Thr170=)
c.783T>G (p.Thr261=)
9g.36087951T>ACA373404484RECKc.895T>A (p.Ser299Thr)
c.511T>A (p.Ser171Thr)
c.784T>A (p.Ser262Thr)
9g.36087951T>CCA373404482RECKc.895T>C (p.Ser299Pro)
c.511T>C (p.Ser171Pro)
c.784T>C (p.Ser262Pro)
9g.36087951T>GCA373404478RECKc.895T>G (p.Ser299Ala)
c.511T>G (p.Ser171Ala)
c.784T>G (p.Ser262Ala)
 dbSNP
9g.36087951T=CA1846266844RECKc.895T= (p.Ser299=)
c.511T= (p.Ser171=)
c.784T= (p.Ser262=)
9g.36087952C>ACA373404488RECKc.896C>A (p.Ser299Ter)
c.512C>A (p.Ser171Ter)
c.785C>A (p.Ser262Ter)
 gnomAD v4
9g.36087952C=CA1846266845RECKc.896C= (p.Ser299=)
c.512C= (p.Ser171=)
c.785C= (p.Ser262=)
9g.36087952C>GCA373404492RECKc.896C>G (p.Ser299Ter)
c.512C>G (p.Ser171Ter)
c.785C>G (p.Ser262Ter)
9g.36087952C>TCA373404493RECKc.896C>T (p.Ser299Leu)
c.512C>T (p.Ser171Leu)
c.785C>T (p.Ser262Leu)
9g.36087952_36087953insCACA918447912RECKc.896_897insCA (p.Thr300LysfsTer13)
c.512_513insCA (p.Thr172LysfsTer13)
c.785_786insCA (p.Thr263LysfsTer13)
 dbSNP
9g.36087953A=CA1846266846RECKc.897A= (p.Ser299=)
c.513A= (p.Ser171=)
c.786A= (p.Ser262=)
9g.36087953A>CCA464477699RECKc.897A>C (p.Ser299=)
c.513A>C (p.Ser171=)
c.786A>C (p.Ser262=)
9g.36087953A>GCA464477700RECKc.897A>G (p.Ser299=)
c.513A>G (p.Ser171=)
c.786A>G (p.Ser262=)
 dbSNP gnomAD v2
9g.36087953A>TCA464477703RECKc.897A>T (p.Ser299=)
c.513A>T (p.Ser171=)
c.786A>T (p.Ser262=)
 gnomAD v4
9g.36087954A=CA1846266847RECKc.898A= (p.Thr300=)
c.514A= (p.Thr172=)
c.787A= (p.Thr263=)
9g.36087954A>CCA373404496RECKc.898A>C (p.Thr300Pro)
c.514A>C (p.Thr172Pro)
c.787A>C (p.Thr263Pro)
9g.36087954A>GCA373404499RECKc.898A>G (p.Thr300Ala)
c.514A>G (p.Thr172Ala)
c.787A>G (p.Thr263Ala)
 dbSNP
9g.36087954A>TCA373404501RECKc.898A>T (p.Thr300Ser)
c.514A>T (p.Thr172Ser)
c.787A>T (p.Thr263Ser)
9g.36087955C>ACA373404505RECKc.899C>A (p.Thr300Lys)
c.515C>A (p.Thr172Lys)
c.788C>A (p.Thr263Lys)
 dbSNP
9g.36087955C=CA1846266848RECKc.899C= (p.Thr300=)
c.515C= (p.Thr172=)
c.788C= (p.Thr263=)
9g.36087955C>GCA373404510RECKc.899C>G (p.Thr300Arg)
c.515C>G (p.Thr172Arg)
c.788C>G (p.Thr263Arg)
 dbSNP
9g.36087955C>TCA373404507RECKc.899C>T (p.Thr300Ile)
c.515C>T (p.Thr172Ile)
c.788C>T (p.Thr263Ile)
9g.36087956A=CA1846266849RECKc.900A= (p.Thr300=)
c.516A= (p.Thr172=)
c.789A= (p.Thr263=)
9g.36087956A>CCA464477707RECKc.900A>C (p.Thr300=)
c.516A>C (p.Thr172=)
c.789A>C (p.Thr263=)
 gnomAD v4
9g.36087956A>GCA464477710RECKc.900A>G (p.Thr300=)
c.516A>G (p.Thr172=)
c.789A>G (p.Thr263=)
 gnomAD v4
9g.36087956A>TCA192836819RECKc.900A>T (p.Thr300=)
c.516A>T (p.Thr172=)
c.789A>T (p.Thr263=)
 dbSNP
9g.36087957T>ACA373404517RECKc.901T>A (p.Cys301Ser)
c.517T>A (p.Cys173Ser)
c.790T>A (p.Cys264Ser)
9g.36087957T>CCA373404520RECKc.901T>C (p.Cys301Arg)
c.517T>C (p.Cys173Arg)
c.790T>C (p.Cys264Arg)
9g.36087957T>GCA373404521RECKc.901T>G (p.Cys301Gly)
c.517T>G (p.Cys173Gly)
c.790T>G (p.Cys264Gly)
9g.36087958G>ACA373404522RECKc.902G>A (p.Cys301Tyr)
c.518G>A (p.Cys173Tyr)
c.791G>A (p.Cys264Tyr)
9g.36087958G>CCA373404523RECKc.902G>C (p.Cys301Ser)
c.518G>C (p.Cys173Ser)
c.791G>C (p.Cys264Ser)
9g.36087958G>TCA373404524RECKc.902G>T (p.Cys301Phe)
c.518G>T (p.Cys173Phe)
c.791G>T (p.Cys264Phe)
9g.36087959T>ACA373404525RECKc.903T>A (p.Cys301Ter)
c.519T>A (p.Cys173Ter)
c.792T>A (p.Cys264Ter)
9g.36087959T>CCA464477717RECKc.903T>C (p.Cys301=)
c.519T>C (p.Cys173=)
c.792T>C (p.Cys264=)
9g.36087959T>GCA373404526RECKc.903T>G (p.Cys301Trp)
c.519T>G (p.Cys173Trp)
c.792T>G (p.Cys264Trp)
9g.36087960A>CCA464477719RECKc.904A>C (p.Arg302=)
c.520A>C (p.Arg174=)
c.793A>C (p.Arg265=)
9g.36087960A>GCA373404527RECKc.904A>G (p.Arg302Gly)
c.520A>G (p.Arg174Gly)
c.793A>G (p.Arg265Gly)
9g.36087960A>TCA373404528RECKc.904A>T (p.Arg302Trp)
c.520A>T (p.Arg174Trp)
c.793A>T (p.Arg265Trp)
9g.36087961G>ACA373404530RECKc.905G>A (p.Arg302Lys)
c.521G>A (p.Arg174Lys)
c.794G>A (p.Arg265Lys)
 dbSNP gnomAD v3 gnomAD v4
9g.36087961G>CCA373404545RECKc.905G>C (p.Arg302Thr)
c.521G>C (p.Arg174Thr)
c.794G>C (p.Arg265Thr)
9g.36087961G=CA1846266850RECKc.905G= (p.Arg302=)
c.521G= (p.Arg174=)
c.794G= (p.Arg265=)
9g.36087961G>TCA373404541RECKc.905G>T (p.Arg302Met)
c.521G>T (p.Arg174Met)
c.794G>T (p.Arg265Met)
9g.36087962G>ACA373404548RECKc.905+1G>A (n.905+1G>A)
c.521+1G>A (n.521+1G>A)
c.794+1G>A (n.794+1G>A)
9g.36087962G>CCA192836821RECKc.905+1G>C (n.905+1G>C)
c.521+1G>C (n.521+1G>C)
c.794+1G>C (n.794+1G>C)
 dbSNP gnomAD v3 gnomAD v4
9g.36087962G=CA1846266851RECKc.905+1G= (n.905+1G=)
c.521+1G= (n.521+1G=)
c.794+1G= (n.794+1G=)
9g.36087962G>TCA373404553RECKc.905+1G>T (n.905+1G>T)
c.521+1G>T (n.521+1G>T)
c.794+1G>T (n.794+1G>T)
9g.36087963T>ACA373404557RECKc.905+2T>A (n.905+2T>A)
c.521+2T>A (n.521+2T>A)
c.794+2T>A (n.794+2T>A)
9g.36087963T>CCA373404558RECKc.905+2T>C (n.905+2T>C)
c.521+2T>C (n.521+2T>C)
c.794+2T>C (n.794+2T>C)
9g.36087963T>GCA373404559RECKc.905+2T>G (n.905+2T>G)
c.521+2T>G (n.521+2T>G)
c.794+2T>G (n.794+2T>G)
9g.36087965A=CA1846266852RECKc.905+4A= (n.905+4A=)
c.521+4A= (n.521+4A=)
c.794+4A= (n.794+4A=)
9g.36087965A>GCA192836824RECKc.905+4A>G (n.905+4A>G)
c.521+4A>G (n.521+4A>G)
c.794+4A>G (n.794+4A>G)
 dbSNP gnomAD v4
9g.36087968A>GCA2689934719RECKc.905+7A>G (n.905+7A>G)
c.521+7A>G (n.521+7A>G)
c.794+7A>G (n.794+7A>G)
 gnomAD v4
9g.36087972C>GCA2689934720RECKc.905+11C>G (n.905+11C>G)
c.521+11C>G (n.521+11C>G)
c.794+11C>G (n.794+11C>G)
 gnomAD v4
9g.36087973A>GCA2689934721RECKc.905+12A>G (n.905+12A>G)
c.521+12A>G (n.521+12A>G)
c.794+12A>G (n.794+12A>G)
 gnomAD v4
9g.36087977delCA2579337491RECKc.905+16del (n.905+16del)
c.521+16del (n.521+16del)
c.794+16del (n.794+16del)
 gnomAD v4
9g.36087975T>CCA2689934722RECKc.905+14T>C (n.905+14T>C)
c.521+14T>C (n.521+14T>C)
c.794+14T>C (n.794+14T>C)
 gnomAD v4
9g.36087976T>ACA192836855RECKc.905+15T>A (n.905+15T>A)
c.521+15T>A (n.521+15T>A)
c.794+15T>A (n.794+15T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.36087976T>CCA2557521276RECKc.905+15T>C (n.905+15T>C)
c.521+15T>C (n.521+15T>C)
c.794+15T>C (n.794+15T>C)
9g.36087976T=CA1846266853RECKc.905+15T= (n.905+15T=)
c.521+15T= (n.521+15T=)
c.794+15T= (n.794+15T=)
9g.36087977T>CCA5054953RECKc.905+16T>C (n.905+16T>C)
c.521+16T>C (n.521+16T>C)
c.794+16T>C (n.794+16T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.36087977T=CA1846266854RECKc.905+16T= (n.905+16T=)
c.521+16T= (n.521+16T=)
c.794+16T= (n.794+16T=)

Number of alleles fetched